We each have two number 15 chromosomes, one inherited from our mother (M.) and one inherited from our father (P, paternal). The Angelman syndrome gene (UBE3A) is located at chromosome 15, band q12, as depicted. In the brain, the Angelman gene is primarily expressed from the maternally inherited chromosome 15. The diagrams below illustrate the four known genetic mechanisms that cause Angelman syndrome. Continue Reading →

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The Angelman Syndrome Foundation is the largest non-governmental funder of Angelman syndrome-specific research. It is our hope that these funded researchers, and their collaborators and peers, will bring forth new discoveries that ultimately lead to treatments and a cure.

The ASF has partnered with leading medical and research institutions, to found the Angelman Syndrome Clinics, a “one-stop-shop” medical and psychosocial resource from birth through adulthood. Each clinic has its own unique capabilities that leverage the expertise and specialized care available from each partnering organization.

Dr. Scott Dindot

Dr. Scott Dindot is an Assistant Professor in the Department of Veterinary Pathobiology at Texas A&M University. He received his Ph.D. in Genetics from Texas A&M, and received postdoctoral training in Dr. Arthur Beaudet’s laboratory at Baylor College of Medicine. His current projects include: Elucidating the mechanisms regulating genomic imprinting of Ube3a in neurons, examining the efficacy of gene therapy in Angelman syndrome mice, and examining the neurological function of the human UBE3A isoforms.

Q: What prompted you to begin a career in research?

A: I’ve always been interested in science, even as a kid. While an undergraduate student at Texas A&M I worked in Dr. George Davis’ lab at the Medical School and then in Dr. Jorge Piedrahita’s lab at the Veterinary School. It was those experiences in their labs that lead me into a career in research.

Q: What led you to specifically target Angelman syndrome?

A: I’ve spent most of my training and career studying genomic imprinting. I did my postdoctoral training in Dr. Art Beaudet’s lab at Baylor College of Medicine where I developed a fluorescent mouse model to examine the allelic expression patterns of the Ube3a in the brain. I also investigated synapse morphology in the Angelman syndrome mice. I’ve continued research in these areas in my own lab, with the goals of understanding how Ube3a is imprinted and identifying potential therapeutic targets to treat AS.

Q: What is your specific area of focus within the field of Angelman syndrome research?

A: Currently my lab is focusing on three areas. We are investigating the epigenetic mechanisms regulating genomic imprinting of Ube3a in neurons. We are testing whether gene therapy is a viable therapeutic option for individuals with AS. We are also investigating the neurological function of the UBE3A isoforms.

Q: What have you learned through your research thus far, and what is the next step?

A: The silencing of the paternal Ube3a allele in neurons is unique relative to other imprinted genes. We are trying to dissect this process and to understand why Ube3a is imprinted specifically in neurons and not other cell types.

Q: What is the single most rewarding aspect of conducting Angelman syndrome research?

A: The idea of developing a therapy is by far the most rewarding aspect of conducting research in AS.

Q: How do you see your research complimenting the efforts of other Angelman syndrome or neurodevelopmental disorder researchers?

A: I see our research facilitating the development of a therapy for AS. Science is a team sport, where we rely on each to advance the field. There are a number of outstanding labs working to develop a therapy for AS. Hopefully our research will contribute to this effort.

Q: Does your research focus on any other disorders?

A: Yes, we are studying 15q duplication syndrome and Prader-Willi syndrome. We are also investigating the genetic basis of epilepsy and neurodegeneration in dogs, with the idea of developing models for these conditions in humans.

Q: What activities do you enjoy in your spare time?

A: I enjoy hunting and fishing, but most of all I enjoy spending time with my wife and children.

Q: Do you have someone in or outside the scientific community that has inspired you, or is there someone you look up to as a personal hero?

A: My father is my personal hero. My PhD advisor, Dr. Jorge Piedrahita, has had the greatest impact on my career in science.